CLDN14-AS1 (CLDN14 antisense RNA 1) - Rat Genome Database

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Gene: CLDN14-AS1 (CLDN14 antisense RNA 1) Homo sapiens
Analyze
Symbol: CLDN14-AS1
Name: CLDN14 antisense RNA 1
RGD ID: 38637361
HGNC Page HGNC:55953
Description: ASSOCIATED WITH Alport syndrome; autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 29
Type: ncrna
RefSeq Status: VALIDATED
Previously known as: LOC105369301; PTAR; uncharacterized LOC105369301
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382136,430,325 - 36,498,526 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372137,802,623 - 37,870,824 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map21q22.13NCBI
CHM1_12137,363,853 - 37,431,614 (+)NCBICHM1_1
T2T-CHM13v2.02134,812,904 - 34,880,646 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:30098599   PMID:36700051  


Genomics

Variants

.
Variants in CLDN14-AS1
162 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001146079.2(CLDN14):c.614C>T (p.Ala205Val) single nucleotide variant Inborn genetic diseases [RCV003267404] Chr21:36461082 [GRCh38]
Chr21:37833380 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.660T>A (p.Asn220Lys) single nucleotide variant not provided [RCV004814576] Chr21:36461036 [GRCh38]
Chr21:37833334 [GRCh37]
uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.129C>T (p.Ala43=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001143199]|not provided [RCV001593290] Chr21:36461567 [GRCh38]
Chr21:37833865 [GRCh37]
Chr21:21q22.13
benign|likely benign|uncertain significance
NM_001146079.2(CLDN14):c.522G>A (p.Ser174=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000378098]|not provided [RCV001580485] Chr21:36461174 [GRCh38]
Chr21:37833472 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138769]|CLDN14-related disorder [RCV003904910]|not provided [RCV000966676]|not specified [RCV000037061] Chr21:36461075 [GRCh38]
Chr21:37833373 [GRCh37]
Chr21:21q22.13
benign|uncertain significance
NM_001146079.2(CLDN14):c.681G>A (p.Ser227=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138767]|not provided [RCV002559338] Chr21:36461015 [GRCh38]
Chr21:37833313 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.*10G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000299110]|CLDN14-related disorder [RCV003891732]|not provided [RCV001675657]|not specified [RCV000177401] Chr21:36460966 [GRCh38]
Chr21:37833264 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000735776] Chr21:36461505 [GRCh38]
Chr21:37833803 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001146079.2(CLDN14):c.-645G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000386836] Chr21:36480058 [GRCh38]
Chr21:37852356 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-82+2024G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000350984]|not provided [RCV004703843] Chr21:36477471 [GRCh38]
Chr21:37849769 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.606G>C (p.Thr202=) single nucleotide variant not provided [RCV000932137] Chr21:36461090 [GRCh38]
Chr21:37833388 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.-297G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000266849] Chr21:36479710 [GRCh38]
Chr21:37852008 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-390G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000362592] Chr21:36479803 [GRCh38]
Chr21:37852101 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.-436G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001141465] Chr21:36479849 [GRCh38]
Chr21:37852147 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.513G>C (p.Ser171=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001141349] Chr21:36461183 [GRCh38]
Chr21:37833481 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3 copy number gain See cases [RCV000053071] Chr21:36396699..38951223 [GRCh38]
Chr21:37768997..40323148 [GRCh37]
Chr21:36690867..39245018 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
NM_001146079.2(CLDN14):c.-531G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001141467] Chr21:36479944 [GRCh38]
Chr21:37852242 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
NM_001146079.2(CLDN14):c.363C>T (p.Gly121=) single nucleotide variant CLDN14-related disorder [RCV003937821]|not specified [RCV000222559] Chr21:36461333 [GRCh38]
Chr21:37833631 [GRCh37]
Chr21:21q22.13
likely benign
NM_144492.2(CLDN14):c.*356T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138346] Chr21:36460620 [GRCh38]
Chr21:37832918 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.*66G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138348] Chr21:36460910 [GRCh38]
Chr21:37833208 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-187C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000356835] Chr21:36479600 [GRCh38]
Chr21:37851898 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.102G>A (p.Ala34=) single nucleotide variant not provided [RCV000896979]|not specified [RCV000607610] Chr21:36461594 [GRCh38]
Chr21:37833892 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.*222T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138347] Chr21:36460754 [GRCh38]
Chr21:37833052 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs) insertion Sensorineural hearing loss disorder [RCV001353201] Chr21:36461655..36461656 [GRCh38]
Chr21:37833953..37833954 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001146079.2(CLDN14):c.690C>T (p.His230=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138766]|not provided [RCV000725000]|not specified [RCV000037065] Chr21:36461006 [GRCh38]
Chr21:37833304 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.243C>T (p.Arg81=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000288816]|not provided [RCV002054633]|not specified [RCV000037060] Chr21:36461453 [GRCh38]
Chr21:37833751 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000353929]|not provided [RCV002054634]|not specified [RCV000037064] Chr21:36461009 [GRCh38]
Chr21:37833307 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.369C>A (p.Thr123=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001141350]|not provided [RCV003764905]|not specified [RCV000150341] Chr21:36461327 [GRCh38]
Chr21:37833625 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001141351]|not provided [RCV000966264]|not specified [RCV000155356] Chr21:36461396 [GRCh38]
Chr21:37833694 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000169747]|CLDN14-related disorder [RCV003422062]|Hearing impairment [RCV001375151]|not provided [RCV002272154] Chr21:36461454 [GRCh38]
Chr21:37833752 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|not provided
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000169748]|CLDN14-related disorder [RCV003390886] Chr21:36461529 [GRCh38]
Chr21:37833827 [GRCh37]
Chr21:21q22.13
pathogenic|not provided
NM_001146079.2(CLDN14):c.*107G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000370840]|not provided [RCV004694635] Chr21:36460869 [GRCh38]
Chr21:37833167 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-445G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001141466] Chr21:36479858 [GRCh38]
Chr21:37852156 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.*48G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138349]|not provided [RCV001544893] Chr21:36460928 [GRCh38]
Chr21:37833226 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.18G>A (p.Val6=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001143200]|not provided [RCV000054674] Chr21:36461678 [GRCh38]
Chr21:37833976 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
NM_001146079.2(CLDN14):c.-75G>A single nucleotide variant not provided [RCV001590563] Chr21:36461770 [GRCh38]
Chr21:37834068 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.-81-184A>G single nucleotide variant not provided [RCV001682559] Chr21:36461960 [GRCh38]
Chr21:37834258 [GRCh37]
Chr21:21q22.13
benign
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.-290A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000358068]|not provided [RCV004718541] Chr21:36479703 [GRCh38]
Chr21:37852001 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr) single nucleotide variant not provided [RCV002291596]|not specified [RCV000215729] Chr21:36461137 [GRCh38]
Chr21:37833435 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000378498]|not provided [RCV003320632] Chr21:36461401 [GRCh38]
Chr21:37833699 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=) single nucleotide variant not provided [RCV000895619]|not specified [RCV000150342] Chr21:36461423 [GRCh38]
Chr21:37833721 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.*214dup duplication not provided [RCV001549583] Chr21:36460761..36460762 [GRCh38]
Chr21:37833059..37833060 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001143198] Chr21:36461434 [GRCh38]
Chr21:37833732 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.-426C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001141464] Chr21:36479839 [GRCh38]
Chr21:37852137 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000263703]|not provided [RCV002523178] Chr21:36461109 [GRCh38]
Chr21:37833407 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.495C>T (p.Tyr165=) single nucleotide variant not specified [RCV000216296] Chr21:36461201 [GRCh38]
Chr21:37833499 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.-242C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000262046] Chr21:36479655 [GRCh38]
Chr21:37851953 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.471G>A (p.Lys157=) single nucleotide variant not provided [RCV000977853]|not specified [RCV000150340] Chr21:36461225 [GRCh38]
Chr21:37833523 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.450G>T (p.Pro150=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000264904] Chr21:36461246 [GRCh38]
Chr21:37833544 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) single nucleotide variant Vein of Galen aneurysmal malformation [RCV003458356]|not provided [RCV001594877]|not specified [RCV000219015] Chr21:36461511 [GRCh38]
Chr21:37833809 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001146079.2(CLDN14):c.*51G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000276784]|not provided [RCV001597106] Chr21:36460925 [GRCh38]
Chr21:37833223 [GRCh37]
Chr21:21q22.13
benign|likely benign
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
NM_001146079.2(CLDN14):c.525C>T (p.Leu175=) single nucleotide variant not provided [RCV000844408] Chr21:36461171 [GRCh38]
Chr21:37833469 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.-75G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000314776]|not provided [RCV001566094] Chr21:36461770 [GRCh38]
Chr21:37834068 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.-76C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001136623] Chr21:36461771 [GRCh38]
Chr21:37834069 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-82+2044A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001136624] Chr21:36477451 [GRCh38]
Chr21:37849749 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-46G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000349612]|not provided [RCV000842360] Chr21:36461741 [GRCh38]
Chr21:37834039 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.-130G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001136625] Chr21:36479543 [GRCh38]
Chr21:37851841 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138768]|not provided [RCV000711209]|not specified [RCV000037062] Chr21:36461063 [GRCh38]
Chr21:37833361 [GRCh37]
Chr21:21q22.13
benign
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 copy number loss See cases [RCV000135412] Chr21:35543872..39993338 [GRCh38]
Chr21:36916169..41365265 [GRCh37]
Chr21:35838039..40287135 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000384164]|not provided [RCV000991810]|not specified [RCV000037063] Chr21:36461633 [GRCh38]
Chr21:37833931 [GRCh37]
Chr21:21q22.13
benign|likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000005124]|Hearing impairment [RCV000417186]|Hearing loss, autosomal recessive [RCV001291511] Chr21:36461442 [GRCh38]
Chr21:37833740 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV002480050]|not provided [RCV000366051] Chr21:36461375 [GRCh38]
Chr21:37833673 [GRCh37]
Chr21:21q22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000005125]|not provided [RCV001762034] Chr21:36461395 [GRCh38]
Chr21:37833693 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
NM_001146079.2(CLDN14):c.-82+9G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000398970] Chr21:36479486 [GRCh38]
Chr21:37851784 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.-492C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000272665] Chr21:36479905 [GRCh38]
Chr21:37852203 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.314C>T (p.Thr105Met) single nucleotide variant not provided [RCV000521959] Chr21:36461382 [GRCh38]
Chr21:37833680 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1 copy number loss See cases [RCV000133619] Chr21:35772177..38558509 [GRCh38]
Chr21:37144475..39930433 [GRCh37]
Chr21:36066345..38852303 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
NM_001146079.2(CLDN14):c.401del (p.Val134fs) deletion not provided [RCV000598023] Chr21:36461295 [GRCh38]
Chr21:37833593 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001146079.2(CLDN14):c.60C>T (p.Gly20=) single nucleotide variant not provided [RCV000054675] Chr21:36461636 [GRCh38]
Chr21:37833934 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-136G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000297209] Chr21:36479549 [GRCh38]
Chr21:37851847 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.591G>A (p.Pro197=) single nucleotide variant not provided [RCV000925264] Chr21:36461105 [GRCh38]
Chr21:37833403 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001733755]|not provided [RCV002488500] Chr21:36461173 [GRCh38]
Chr21:37833471 [GRCh37]
Chr21:21q22.13
uncertain significance|no classifications from unflagged records
NM_001146079.2(CLDN14):c.490C>A (p.Leu164Met) single nucleotide variant not provided [RCV001764087] Chr21:36461206 [GRCh38]
Chr21:37833504 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.398del (p.Met133fs) deletion Autosomal recessive nonsyndromic hearing loss 29 [RCV000005123] Chr21:36461298 [GRCh38]
Chr21:37833596 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001146079.2(CLDN14):c.83C>T (p.Pro28Leu) single nucleotide variant not specified [RCV000156406] Chr21:36461613 [GRCh38]
Chr21:37833911 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV002493911]|Hearing impairment [RCV001375416]|not provided [RCV002276718] Chr21:36461332 [GRCh38]
Chr21:37833630 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000169749] Chr21:36461002 [GRCh38]
Chr21:37833300 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|not provided
NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000343853] Chr21:36461600 [GRCh38]
Chr21:37833898 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-634G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000327626] Chr21:36480047 [GRCh38]
Chr21:37852345 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-54G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000394465] Chr21:36461749 [GRCh38]
Chr21:37834047 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-264G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000303236]|not provided [RCV004717465] Chr21:36479677 [GRCh38]
Chr21:37851975 [GRCh37]
Chr21:21q22.13
benign|likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.15C>T (p.Ala5=) single nucleotide variant not provided [RCV000054673] Chr21:36461681 [GRCh38]
Chr21:37833979 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.663G>A (p.Arg221=) single nucleotide variant not provided [RCV000054676] Chr21:36461033 [GRCh38]
Chr21:37833331 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.169C>T (p.His57Tyr) single nucleotide variant Hearing impairment [RCV001375125] Chr21:36461527 [GRCh38]
Chr21:37833825 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile) single nucleotide variant CLDN14-related disorder [RCV003967770]|not provided [RCV000317022] Chr21:36461290 [GRCh38]
Chr21:37833588 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001146079.2(CLDN14):c.294C>T (p.Ala98=) single nucleotide variant not provided [RCV001545814] Chr21:36461402 [GRCh38]
Chr21:37833700 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001146079.2(CLDN14):c.317G>A (p.Arg106His) single nucleotide variant not provided [RCV000479370] Chr21:36461379 [GRCh38]
Chr21:37833677 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000323958] Chr21:36461318 [GRCh38]
Chr21:37833616 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.450G>A (p.Pro150=) single nucleotide variant not specified [RCV000245859] Chr21:36461246 [GRCh38]
Chr21:37833544 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.424G>A (p.Asp142Asn) single nucleotide variant not provided [RCV001758296] Chr21:36461272 [GRCh38]
Chr21:37833570 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr) single nucleotide variant not specified [RCV000600618] Chr21:36461359 [GRCh38]
Chr21:37833657 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.505A>G (p.Ile169Val) single nucleotide variant not specified [RCV000600674] Chr21:36461191 [GRCh38]
Chr21:37833489 [GRCh37]
Chr21:21q22.13
likely benign
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000318936] Chr21:36461161 [GRCh38]
Chr21:37833459 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-337C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000326596] Chr21:36479750 [GRCh38]
Chr21:37852048 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.315G>A (p.Thr105=) single nucleotide variant not provided [RCV001810334] Chr21:36461381 [GRCh38]
Chr21:37833679 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.292G>A (p.Ala98Thr) single nucleotide variant not provided [RCV001964457] Chr21:36461404 [GRCh38]
Chr21:37833702 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.626C>T (p.Pro209Leu) single nucleotide variant not provided [RCV001911461] Chr21:36461070 [GRCh38]
Chr21:37833368 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro) single nucleotide variant Vein of Galen aneurysmal malformation [RCV001849634] Chr21:36461359 [GRCh38]
Chr21:37833657 [GRCh37]
Chr21:21q22.13
association
NM_001146079.2(CLDN14):c.427G>A (p.Val143Met) single nucleotide variant Vein of Galen aneurysmal malformation [RCV001849633]|not provided [RCV003235603] Chr21:36461269 [GRCh38]
Chr21:37833567 [GRCh37]
Chr21:21q22.13
association|uncertain significance
NM_001146079.2(CLDN14):c.106G>A (p.Val36Met) single nucleotide variant not provided [RCV002026765] Chr21:36461590 [GRCh38]
Chr21:37833888 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.266T>C (p.Leu89Pro) single nucleotide variant not provided [RCV001904532] Chr21:36461430 [GRCh38]
Chr21:37833728 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.463G>A (p.Gly155Ser) single nucleotide variant not provided [RCV001977594] Chr21:36461233 [GRCh38]
Chr21:37833531 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.347C>T (p.Thr116Ile) single nucleotide variant not provided [RCV002226001] Chr21:36461349 [GRCh38]
Chr21:37833647 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.588C>G (p.Ala196=) single nucleotide variant not provided [RCV002096114] Chr21:36461108 [GRCh38]
Chr21:37833406 [GRCh37]
Chr21:21q22.13
benign
NM_001146079.2(CLDN14):c.661C>T (p.Arg221Trp) single nucleotide variant not provided [RCV002245101] Chr21:36461035 [GRCh38]
Chr21:37833333 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.549G>A (p.Leu183=) single nucleotide variant not provided [RCV002177870] Chr21:36461147 [GRCh38]
Chr21:37833445 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.664del (p.Ala222fs) deletion Autosomal recessive nonsyndromic hearing loss 29 [RCV002221415] Chr21:36461032 [GRCh38]
Chr21:37833330 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.12G>A (p.Thr4=) single nucleotide variant not provided [RCV003110824] Chr21:36461684 [GRCh38]
Chr21:37833982 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.156G>A (p.Met52Ile) single nucleotide variant not provided [RCV002265361] Chr21:36461540 [GRCh38]
Chr21:37833838 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.105C>T (p.His35=) single nucleotide variant not provided [RCV002263278] Chr21:36461591 [GRCh38]
Chr21:37833889 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.416C>T (p.Thr139Ile) single nucleotide variant Inborn genetic diseases [RCV003287855] Chr21:36461280 [GRCh38]
Chr21:37833578 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.101C>T (p.Ala34Val) single nucleotide variant Inborn genetic diseases [RCV002771818] Chr21:36461595 [GRCh38]
Chr21:37833893 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.130G>A (p.Val44Met) single nucleotide variant Inborn genetic diseases [RCV002732081] Chr21:36461566 [GRCh38]
Chr21:37833864 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.512C>T (p.Ser171Leu) single nucleotide variant not provided [RCV002618499] Chr21:36461184 [GRCh38]
Chr21:37833482 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.661C>G (p.Arg221Gly) single nucleotide variant Inborn genetic diseases [RCV003000379] Chr21:36461035 [GRCh38]
Chr21:37833333 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.715G>A (p.Val239Met) single nucleotide variant Inborn genetic diseases [RCV003161975]|not provided [RCV002636687] Chr21:36460981 [GRCh38]
Chr21:37833279 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.548_588dup (p.Pro197fs) duplication not provided [RCV002976219] Chr21:36461107..36461108 [GRCh38]
Chr21:37833405..37833406 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.414G>A (p.Trp138Ter) single nucleotide variant not provided [RCV002508569] Chr21:36461282 [GRCh38]
Chr21:37833580 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001146079.2(CLDN14):c.181A>T (p.Ile61Phe) single nucleotide variant not provided [RCV002642218] Chr21:36461515 [GRCh38]
Chr21:37833813 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.605C>T (p.Thr202Met) single nucleotide variant not provided [RCV002575055] Chr21:36461091 [GRCh38]
Chr21:37833389 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.462C>A (p.Ser154Arg) single nucleotide variant not provided [RCV002508610] Chr21:36461234 [GRCh38]
Chr21:37833532 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.316C>T (p.Arg106Cys) single nucleotide variant Inborn genetic diseases [RCV003250763]|not provided [RCV003082690] Chr21:36461380 [GRCh38]
Chr21:37833678 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.653A>G (p.Lys218Arg) single nucleotide variant not provided [RCV002917816] Chr21:36461043 [GRCh38]
Chr21:37833341 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.403G>T (p.Ala135Ser) single nucleotide variant Inborn genetic diseases [RCV002787201] Chr21:36461293 [GRCh38]
Chr21:37833591 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.343A>G (p.Thr115Ala) single nucleotide variant not provided [RCV002833476] Chr21:36461353 [GRCh38]
Chr21:37833651 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.91C>A (p.Arg31=) single nucleotide variant not provided [RCV002580976] Chr21:36461605 [GRCh38]
Chr21:37833903 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.603C>A (p.Thr201=) single nucleotide variant not provided [RCV003091685] Chr21:36461093 [GRCh38]
Chr21:37833391 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.215C>T (p.Ala72Val) single nucleotide variant Inborn genetic diseases [RCV004070453]|not provided [RCV003068669] Chr21:36461481 [GRCh38]
Chr21:37833779 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.92G>A (p.Arg31Gln) single nucleotide variant Inborn genetic diseases [RCV002679508] Chr21:36461604 [GRCh38]
Chr21:37833902 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.77T>A (p.Ile26Asn) single nucleotide variant not provided [RCV003129506] Chr21:36461619 [GRCh38]
Chr21:37833917 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.91C>T (p.Arg31Trp) single nucleotide variant not provided [RCV003152079] Chr21:36461605 [GRCh38]
Chr21:37833903 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.397A>G (p.Met133Val) single nucleotide variant not provided [RCV003318870] Chr21:36461299 [GRCh38]
Chr21:37833597 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.562G>A (p.Glu188Lys) single nucleotide variant not provided [RCV003480373] Chr21:36461134 [GRCh38]
Chr21:37833432 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del) deletion Vein of Galen aneurysmal malformation [RCV003458966] Chr21:36461578..36461580 [GRCh38]
Chr21:37833876..37833878 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.622G>A (p.Ala208Thr) single nucleotide variant not provided [RCV003882154] Chr21:36461074 [GRCh38]
Chr21:37833372 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.588C>A (p.Ala196=) single nucleotide variant not provided [RCV003726906] Chr21:36461108 [GRCh38]
Chr21:37833406 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.242_243delinsAT (p.Arg81His) indel not provided [RCV003837859] Chr21:36461453..36461454 [GRCh38]
Chr21:37833751..37833752 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001146079.2(CLDN14):c.84G>A (p.Pro28=) single nucleotide variant not provided [RCV003729062] Chr21:36461612 [GRCh38]
Chr21:37833910 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.203del (p.Arg68fs) deletion not provided [RCV003568640] Chr21:36461493 [GRCh38]
Chr21:37833791 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001146079.2(CLDN14):c.513G>A (p.Ser171=) single nucleotide variant not provided [RCV003710178] Chr21:36461183 [GRCh38]
Chr21:37833481 [GRCh37]
Chr21:21q22.13
likely benign
NM_001146079.2(CLDN14):c.569C>T (p.Pro190Leu) single nucleotide variant Inborn genetic diseases [RCV004444305] Chr21:36461127 [GRCh38]
Chr21:37833425 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.361G>A (p.Gly121Ser) single nucleotide variant Inborn genetic diseases [RCV004444304] Chr21:36461335 [GRCh38]
Chr21:37833633 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.580T>C (p.Tyr194His) single nucleotide variant Inborn genetic diseases [RCV004444306] Chr21:36461116 [GRCh38]
Chr21:37833414 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.206C>T (p.Ser69Phe) single nucleotide variant Inborn genetic diseases [RCV004444303] Chr21:36461490 [GRCh38]
Chr21:37833788 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.646G>T (p.Ala216Ser) single nucleotide variant Inborn genetic diseases [RCV004444307] Chr21:36461050 [GRCh38]
Chr21:37833348 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.639_645del (p.Ala215fs) deletion Autosomal recessive nonsyndromic hearing loss 29 [RCV003990296] Chr21:36461051..36461057 [GRCh38]
Chr21:37833349..37833355 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.481G>A (p.Gly161Ser) single nucleotide variant Inborn genetic diseases [RCV004612883] Chr21:36461215 [GRCh38]
Chr21:37833513 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.674T>C (p.Val225Ala) single nucleotide variant Inborn genetic diseases [RCV004612881]|not provided [RCV004767656] Chr21:36461022 [GRCh38]
Chr21:37833320 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.323C>T (p.Ala108Val) single nucleotide variant Inborn genetic diseases [RCV004612882] Chr21:36461373 [GRCh38]
Chr21:37833671 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.10A>G (p.Thr4Ala) single nucleotide variant not provided [RCV004726052] Chr21:36461686 [GRCh38]
Chr21:37833984 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.251T>C (p.Met84Thr) single nucleotide variant not provided [RCV004772211] Chr21:36461445 [GRCh38]
Chr21:37833743 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-81-4T>C single nucleotide variant not provided [RCV004769902] Chr21:36461780 [GRCh38]
Chr21:37834078 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.291C>A (p.Cys97Ter) single nucleotide variant Hearing loss, autosomal recessive [RCV004699151] Chr21:36461405 [GRCh38]
Chr21:37833703 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter) single nucleotide variant Hearing impairment [RCV001375278]|not provided [RCV002550952] Chr21:36461607 [GRCh38]
Chr21:37833905 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|uncertain significance
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001000269]|not provided [RCV000991809]|not specified [RCV000037059] Chr21:36461685 [GRCh38]
Chr21:37833983 [GRCh37]
Chr21:21q22.13
benign|likely benign
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV000778641]|not provided [RCV001575532]|not specified [RCV000222605] Chr21:36461208 [GRCh38]
Chr21:37833506 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001138770] Chr21:36461118 [GRCh38]
Chr21:37833416 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.-5G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001143201]|not provided [RCV001571304] Chr21:36461700 [GRCh38]
Chr21:37833998 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 29 [RCV001287748] Chr21:36461266 [GRCh38]
Chr21:37833564 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser) single nucleotide variant Alport syndrome [RCV001375234] Chr21:36461647 [GRCh38]
Chr21:37833945 [GRCh37]
Chr21:21q22.13
uncertain significance

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597503389GWAS1599463_Hhemoglobin measurement QTL GWAS1599463 (human)6e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)213644677336446774Human
597414298GWAS1510372_Hnephrolithiasis QTL GWAS1510372 (human)7e-21nephrolithiasis213646368436463685Human
597437598GWAS1533672_Hurolithiasis QTL GWAS1533672 (human)3e-11urolithiasis213646467536464676Human
597408920GWAS1504994_Halkaline phosphatase measurement QTL GWAS1504994 (human)6e-12alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)213645721036457211Human
597398168GWAS1494242_Hglomerular filtration rate QTL GWAS1494242 (human)9e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)213645945336459454Human
597503390GWAS1599464_Hhematocrit QTL GWAS1599464 (human)3e-09hematocrithematocrit (CMO:0000037)213648355636483557Human
597467800GWAS1563874_Hglomerular filtration rate QTL GWAS1563874 (human)7e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)213644584336445844Human
597389971GWAS1486045_Hhemoglobin measurement QTL GWAS1486045 (human)4e-28hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597517972GWAS1614046_Hnephrolithiasis QTL GWAS1614046 (human)3e-09nephrolithiasis213644657336446574Human
597414290GWAS1510364_Hnephrolithiasis QTL GWAS1510364 (human)6e-19nephrolithiasis213644657336446574Human
597616531GWAS1673391_Herythrocyte count QTL GWAS1673391 (human)3e-14erythrocyte countred blood cell count (CMO:0000025)213646196036461961Human
597614984GWAS1671844_Hureterolithiasis QTL GWAS1671844 (human)4e-20ureterolithiasis213646011036460111Human
597579906GWAS1636766_Hhematocrit QTL GWAS1636766 (human)2e-13hematocrithematocrit (CMO:0000037)213646196036461961Human
597498297GWAS1594371_Hhemoglobin measurement QTL GWAS1594371 (human)6e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597409726GWAS1505800_Hglomerular filtration rate QTL GWAS1505800 (human)5e-20glomerular filtration rateglomerular filtration rate (CMO:0000490)213645945336459454Human
597579192GWAS1636052_Hgout QTL GWAS1636052 (human)7e-16gout213646011036460111Human
597456053GWAS1552127_Hhemoglobin measurement QTL GWAS1552127 (human)2e-31hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597600695GWAS1657555_Hblood urea nitrogen measurement QTL GWAS1657555 (human)2e-16blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213646264636462647Human
597392817GWAS1488891_Hhematocrit QTL GWAS1488891 (human)8e-55hematocrithematocrit (CMO:0000037)213646196036461961Human
597406903GWAS1502977_Huric acid measurement QTL GWAS1502977 (human)4e-22uric acid measurementblood uric acid level (CMO:0000501)213646242336462424Human
597596083GWAS1652943_Hglomerular filtration rate QTL GWAS1652943 (human)4e-11glomerular filtration rateglomerular filtration rate (CMO:0000490)213646196036461961Human
596960955GWAS1080474_Hglomerular filtration rate QTL GWAS1080474 (human)2e-28glomerular filtration rateglomerular filtration rate (CMO:0000490)213646234336462344Human
597395631GWAS1491705_Hcreatinine measurement QTL GWAS1491705 (human)2e-13creatinine measurementblood creatinine measurement (CMO:0000767)213644397636443977Human
597609640GWAS1666500_Hmagnesium measurement QTL GWAS1666500 (human)2e-46magnesium measurementserum magnesium level (CMO:0000541)213646011036460111Human
597379495GWAS1475569_Herythrocyte count QTL GWAS1475569 (human)2e-27erythrocyte countred blood cell count (CMO:0000025)213646196036461961Human
597360293GWAS1456367_Hpathological myopia QTL GWAS1456367 (human)0.000002pathological myopia213643707936437080Human
597609377GWAS1666237_Hmagnesium measurement QTL GWAS1666237 (human)5e-36magnesium measurementserum magnesium level (CMO:0000541)213646346636463467Human
597427421GWAS1523495_Hgout QTL GWAS1523495 (human)5e-16gout213645721036457211Human
597488094GWAS1584168_Hblood urea nitrogen measurement QTL GWAS1584168 (human)7e-34blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213646145336461454Human
597588956GWAS1645816_Hhematocrit QTL GWAS1645816 (human)7e-21hematocrithematocrit (CMO:0000037)213646196036461961Human
597369561GWAS1465635_Hhemoglobin measurement QTL GWAS1465635 (human)7e-49hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597485016GWAS1581090_Hurolithiasis QTL GWAS1581090 (human)1e-20urolithiasis213646467536464676Human
597384413GWAS1480487_Hred blood cell density measurement QTL GWAS1480487 (human)9e-38erythrocyte morphology trait (VT:0002447)213646196036461961Human
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human
597393105GWAS1489179_Hhematocrit QTL GWAS1489179 (human)7e-11hematocrithematocrit (CMO:0000037)213646196036461961Human
597594065GWAS1650925_Hhematocrit QTL GWAS1650925 (human)2e-22hematocrithematocrit (CMO:0000037)213646196036461961Human
596986565GWAS1106084_Hhemoglobin measurement QTL GWAS1106084 (human)6e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597524684GWAS1620758_Hhemoglobin measurement QTL GWAS1620758 (human)7e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)213643033136430332Human
597366217GWAS1462291_Hhematocrit QTL GWAS1462291 (human)6e-61hematocrithematocrit (CMO:0000037)213646196036461961Human
597398728GWAS1494802_Hblood urea nitrogen measurement QTL GWAS1494802 (human)3e-25blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213645945336459454Human
597524681GWAS1620755_Hhemoglobin measurement QTL GWAS1620755 (human)6e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
596956621GWAS1076140_Hglomerular filtration rate QTL GWAS1076140 (human)1e-20glomerular filtration rateglomerular filtration rate (CMO:0000490)213646234336462344Human
597529793GWAS1625867_Hglomerular filtration rate QTL GWAS1625867 (human)3e-18glomerular filtration rateglomerular filtration rate (CMO:0000490)213646234336462344Human
597426369GWAS1522443_Hgout QTL GWAS1522443 (human)7e-16gout213644511236445113Human
596964555GWAS1084074_Hhemoglobin measurement QTL GWAS1084074 (human)4e-28hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597615359GWAS1672219_Hmagnesium measurement QTL GWAS1672219 (human)5e-43magnesium measurementserum magnesium level (CMO:0000541)213646011036460111Human
597615354GWAS1672214_Hnephrolithiasis QTL GWAS1672214 (human)3e-45nephrolithiasis213646304936463050Human
597615094GWAS1671954_Hbladder calculus QTL GWAS1671954 (human)3e-49bladder calculus213646253736462538Human
597529844GWAS1625918_Hpost operative nausea and vomiting QTL GWAS1625918 (human)0.000002post operative nausea and vomiting213649418236494183Human
597578741GWAS1635601_Hhemoglobin measurement QTL GWAS1635601 (human)6e-17hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597537522GWAS1633596_Hbody height QTL GWAS1633596 (human)4e-19body height (VT:0001253)body height (CMO:0000106)213644660436446605Human
597354474GWAS1450548_Hbone density QTL GWAS1450548 (human)4e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)213647603636476037Human
597354475GWAS1450549_Hbone density QTL GWAS1450549 (human)6e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)213647603636476037Human
597368296GWAS1464370_Hhemoglobin measurement QTL GWAS1464370 (human)7e-53hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597445096GWAS1541170_Hhemoglobin measurement QTL GWAS1541170 (human)7e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597354476GWAS1450550_Hbone density QTL GWAS1450550 (human)0.0000002bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)213647603636476037Human
597419500GWAS1515574_Hurate measurement QTL GWAS1515574 (human)2e-28urate measurementblood uric acid level (CMO:0000501)213646032336460324Human
597580262GWAS1637122_Hgout QTL GWAS1637122 (human)1e-16gout213646011036460111Human
597366498GWAS1462572_Hhematocrit QTL GWAS1462572 (human)1e-40hematocrithematocrit (CMO:0000037)213646196036461961Human
597579492GWAS1636352_Hhematocrit QTL GWAS1636352 (human)3e-19hematocrithematocrit (CMO:0000037)213646196036461961Human
597614565GWAS1671425_Hmagnesium measurement QTL GWAS1671425 (human)1e-27magnesium measurementserum magnesium level (CMO:0000541)213646011036460111Human
597488353GWAS1584427_Hhematocrit QTL GWAS1584427 (human)2e-35hematocrithematocrit (CMO:0000037)213646196036461961Human
596959465GWAS1078984_Hglomerular filtration rate QTL GWAS1078984 (human)3e-18glomerular filtration rateglomerular filtration rate (CMO:0000490)213646234336462344Human
597578976GWAS1635836_Hhemoglobin measurement QTL GWAS1635836 (human)7e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597595360GWAS1652220_Hblood urea nitrogen measurement QTL GWAS1652220 (human)4e-31blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213646304936463050Human
597517599GWAS1613673_Hnephrolithiasis QTL GWAS1613673 (human)1e-35nephrolithiasis213646304936463050Human
596963091GWAS1082610_Hhematocrit QTL GWAS1082610 (human)2e-35hematocrithematocrit (CMO:0000037)213646196036461961Human
597500181GWAS1596255_Hhematocrit QTL GWAS1596255 (human)8e-13hematocrithematocrit (CMO:0000037)213646288636462887Human
597442582GWAS1538656_Hhematocrit QTL GWAS1538656 (human)9e-11hematocrithematocrit (CMO:0000037)213646288636462887Human
597467921GWAS1563995_Herythrocyte count QTL GWAS1563995 (human)2e-10erythrocyte countred blood cell count (CMO:0000025)213644181636441817Human
597467153GWAS1563227_Hglomerular filtration rate QTL GWAS1563227 (human)9e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)213646196036461961Human
597361685GWAS1457759_Hhemoglobin measurement QTL GWAS1457759 (human)1e-13erythrocyte countred blood cell count (CMO:0000025)213646196036461961Human
597431566GWAS1527640_Hurate measurement QTL GWAS1527640 (human)4e-24urate measurementblood uric acid level (CMO:0000501)213646234336462344Human
597433605GWAS1529679_Herythrocyte count QTL GWAS1529679 (human)6e-28erythrocyte countred blood cell count (CMO:0000025)213646196036461961Human
597519879GWAS1615953_Hurate measurement QTL GWAS1615953 (human)7e-19urate measurementblood uric acid level (CMO:0000501)213646032336460324Human
597415425GWAS1511499_Hurate measurement QTL GWAS1511499 (human)2e-08urate measurementblood uric acid level (CMO:0000501)213646032336460324Human
596987401GWAS1106920_Hglomerular filtration rate QTL GWAS1106920 (human)5e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)213646196036461961Human
597359929GWAS1456003_Hparathyroid hormone measurement QTL GWAS1456003 (human)9e-22parathyroid hormone measurementblood parathyroid hormone level (CMO:0002961)213646145336461454Human
596989745GWAS1109264_Hhematocrit QTL GWAS1109264 (human)9e-11hematocrithematocrit (CMO:0000037)213646288636462887Human
596985907GWAS1105426_Hred blood cell density measurement QTL GWAS1105426 (human)9e-38red blood cell density measurement213646196036461961Human
596987443GWAS1106962_Hhematocrit QTL GWAS1106962 (human)8e-13hematocrithematocrit (CMO:0000037)213646288636462887Human
597508149GWAS1604223_Hglomerular filtration rate QTL GWAS1604223 (human)5e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)213646196036461961Human
597419312GWAS1515386_Hurolithiasis QTL GWAS1515386 (human)6e-13urolithiasis213646467536464676Human
596990008GWAS1109527_Herythrocyte count QTL GWAS1109527 (human)2e-27erythrocyte countred blood cell count (CMO:0000025)213646196036461961Human
597423925GWAS1519999_Hlip morphology measurement QTL GWAS1519999 (human)0.0000001lip morphology trait (VT:0003769)213644692036446921Human
596990011GWAS1109530_Hhematocrit QTL GWAS1109530 (human)6e-61hematocrithematocrit (CMO:0000037)213646196036461961Human
597594671GWAS1651531_Hhematocrit QTL GWAS1651531 (human)1e-14hematocrithematocrit (CMO:0000037)213646196036461961Human
597578540GWAS1635400_Hhemoglobin measurement QTL GWAS1635400 (human)9e-19hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597381416GWAS1477490_Hred blood cell density measurement QTL GWAS1477490 (human)5e-42erythrocyte morphology trait (VT:0002447)213646196036461961Human
597402664GWAS1498738_Hnephrolithiasis QTL GWAS1498738 (human)5e-13nephrolithiasis213646294036462941Human
597517609GWAS1613683_Hnephrolithiasis QTL GWAS1613683 (human)2e-20nephrolithiasis213644657336446574Human
597595691GWAS1652551_Hblood urea nitrogen measurement QTL GWAS1652551 (human)4e-22blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213646304936463050Human
597517611GWAS1613685_Hnephrolithiasis QTL GWAS1613685 (human)8e-13nephrolithiasis213644657336446574Human
597363747GWAS1459821_Hmagnesium:calcium ratio QTL GWAS1459821 (human)2e-12magnesium:calcium ratio213643254836432549Human
597528101GWAS1624175_Hglomerular filtration rate QTL GWAS1624175 (human)2e-23glomerular filtration rateglomerular filtration rate (CMO:0000490)213646234336462344Human
596964655GWAS1084174_Hhemoglobin measurement QTL GWAS1084174 (human)1e-13erythrocyte countred blood cell count (CMO:0000025)213646196036461961Human
596989742GWAS1109261_Hhemoglobin measurement QTL GWAS1109261 (human)7e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
596989524GWAS1109043_Hhemoglobin measurement QTL GWAS1109043 (human)6e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597601116GWAS1657976_Hblood urea nitrogen measurement QTL GWAS1657976 (human)3e-21blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213646264636462647Human
597598811GWAS1655671_Hhemoglobin measurement QTL GWAS1655671 (human)1e-20hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
596963155GWAS1082674_Hhemoglobin measurement QTL GWAS1082674 (human)2e-31hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597611858GWAS1668718_Herythrocyte count QTL GWAS1668718 (human)6e-13erythrocyte counthemoglobin measurement (CMO:0000508)213646196036461961Human
596959576GWAS1079095_Hglomerular filtration rate QTL GWAS1079095 (human)2e-23glomerular filtration rateglomerular filtration rate (CMO:0000490)213646234336462344Human
597522512GWAS1618586_Hurate measurement QTL GWAS1618586 (human)3e-20urate measurementblood uric acid level (CMO:0000501)213645721036457211Human
597596240GWAS1653100_Hcreatinine measurement QTL GWAS1653100 (human)1e-12creatinine measurementblood creatinine measurement (CMO:0000767)213646196036461961Human
597614414GWAS1671274_Hmagnesium measurement QTL GWAS1671274 (human)1e-28magnesium measurementserum magnesium level (CMO:0000541)213646011036460111Human
596986188GWAS1105707_Hred blood cell density measurement QTL GWAS1105707 (human)5e-42red blood cell density measurement213646196036461961Human
597597767GWAS1654627_Hhemoglobin measurement QTL GWAS1654627 (human)1e-13hemoglobin measurementred blood cell count (CMO:0000025)213646196036461961Human
597596740GWAS1653600_Hglomerular filtration rate QTL GWAS1653600 (human)6e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)213646196036461961Human
596964171GWAS1083690_Herythrocyte count QTL GWAS1083690 (human)5e-22erythrocyte countred blood cell count (CMO:0000025)213646196036461961Human
597467774GWAS1563848_Hglomerular filtration rate QTL GWAS1563848 (human)2e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)213644584336445844Human
597465726GWAS1561800_Hblood urea nitrogen measurement QTL GWAS1561800 (human)1e-12blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213646234336462344Human
597459582GWAS1555656_Hcalcium measurement QTL GWAS1555656 (human)6e-09calcium measurementblood calcium level (CMO:0000502)213646368436463685Human
597483384GWAS1579458_Hglomerular filtration rate QTL GWAS1579458 (human)1e-20glomerular filtration rateglomerular filtration rate (CMO:0000490)213646234336462344Human
597601143GWAS1658003_Hblood urea nitrogen measurement QTL GWAS1658003 (human)5e-17blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213646242336462424Human
597365367GWAS1461441_Hhemoglobin measurement QTL GWAS1461441 (human)5e-35hemoglobin measurementhemoglobin measurement (CMO:0000508)213646196036461961Human
597359735GWAS1455809_Hhematocrit QTL GWAS1455809 (human)2e-16hematocrithematocrit (CMO:0000037)213646196036461961Human
597608819GWAS1665679_Hmagnesium measurement QTL GWAS1665679 (human)5e-31magnesium measurementserum magnesium level (CMO:0000541)213646304936463050Human
596964730GWAS1084249_Hhematocrit QTL GWAS1084249 (human)2e-16hematocrithematocrit (CMO:0000037)213646196036461961Human
597511279GWAS1607353_Hurate measurement QTL GWAS1607353 (human)2e-10urate measurementblood uric acid level (CMO:0000501)213646032336460324Human
596955489GWAS1075008_Hblood urea nitrogen measurement QTL GWAS1075008 (human)1e-12blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)213646234336462344Human
597405539GWAS1501613_Herythrocyte count QTL GWAS1501613 (human)5e-22erythrocyte countred blood cell count (CMO:0000025)213646196036461961Human
597374049GWAS1470123_Hnephrolithiasis QTL GWAS1470123 (human)4e-12nephrolithiasis213646100936461010Human
597442663GWAS1538737_Hcreatinine measurement QTL GWAS1538737 (human)3e-09creatinine measurementblood creatinine measurement (CMO:0000767)213643258236432583Human
597528422GWAS1624496_Hglomerular filtration rate QTL GWAS1624496 (human)2e-28glomerular filtration rateglomerular filtration rate (CMO:0000490)213646234336462344Human
597523302GWAS1619376_Hhemoglobin measurement QTL GWAS1619376 (human)1e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)213646974236469743Human
597474144GWAS1570218_Hcalcium measurement QTL GWAS1570218 (human)1e-08calcium measurementblood calcium level (CMO:0000502)213646032336460324Human
597412708GWAS1508782_Hbone density QTL GWAS1508782 (human)2e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)213646467536464676Human


Expression

RNA-SEQ Expression


Sequence


RefSeq Acc Id: NR_183529
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,430,325 - 36,498,526 (+)NCBI
T2T-CHM13v2.02134,812,904 - 34,880,646 (+)NCBI
RefSeq Acc Id: NR_183530
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,430,325 - 36,498,526 (+)NCBI
T2T-CHM13v2.02134,812,904 - 34,880,646 (+)NCBI
RefSeq Acc Id: NR_183531
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,430,325 - 36,482,182 (+)NCBI
T2T-CHM13v2.02134,812,904 - 34,864,783 (+)NCBI
RefSeq Acc Id: NR_183532
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,430,325 - 36,460,761 (+)NCBI
T2T-CHM13v2.02134,812,904 - 34,843,362 (+)NCBI
RefSeq Acc Id: NR_183533
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,430,325 - 36,451,876 (+)NCBI
T2T-CHM13v2.02134,812,904 - 34,834,477 (+)NCBI
RefSeq Acc Id: NR_183534
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,430,325 - 36,433,707 (+)NCBI
T2T-CHM13v2.02134,812,904 - 34,816,286 (+)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC CLDN14-AS1 COSMIC
Ensembl Genes ENSG00000230479 ENTREZGENE
Ensembl Transcript ENST00000820008 ENTREZGENE
GTEx ENSG00000230479 GTEx
HGNC ID HGNC:55953 ENTREZGENE
Human Proteome Map CLDN14-AS1 Human Proteome Map
NCBI Gene LOC105369301 ENTREZGENE
RNAcentral URS00023441ED RNACentral
  URS00026A1AB9 RNACentral
  URS00026A1B57 RNACentral
  URS00026A1E36 RNACentral
  URS00026A1F15 RNACentral
  URS00026A2512 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-11-15 CLDN14-AS1  CLDN14 antisense RNA 1  LOC105369301  uncharacterized LOC105369301  Symbol and/or name change 19259463 PROVISIONAL